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Jervell and Lange-Nielsen syndrome(JLNS)

MedGen UID:
5929
•Concept ID:
C0022387
•
Disease or Syndrome
Synonyms: Jervell-Lange Nielsen syndrome; JLNS
SNOMED CT: Jervell and Lange-Nielsen syndrome (373905003); Cardio-auditory syndrome (373905003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0002441
OMIM®: 220400
OMIM® Phenotypic series: PS220400
Orphanet: ORPHA90647

Disease characteristics

Excerpted from the GeneReview: Jervell and Lange-Nielsen Syndrome
Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Lisbeth Tranebjærg  |  Ricardo A Samson  |  Glenn Edward Green   view full author information

Additional description

From MedlinePlus Genetics
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death.  https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome

Professional guidelines

PubMed

Long QT Syndrome Management during and after Pregnancy.
Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
Genetic testing hearing loss: The challenge of non syndromic mimics.
Gooch C, Rudy N, Smith RJ, Robin NH
Int J Pediatr Otorhinolaryngol 2021 Nov;150:110872. Epub 2021 Aug 16 doi: 10.1016/j.ijporl.2021.110872. PMID: 34433113Free PMC Article
Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies.
Ackerman MJ
Semin Pediatr Neurol 2005 Mar;12(1):52-8. doi: 10.1016/j.spen.2005.02.002. PMID: 15929465

Recent clinical studies

Etiology

The history of Jervell and Lange-Nielsen syndrome.
Hem E, Gjesdal KT, Tranebjærg L, Nylenna M
Tidsskr Nor Laegeforen 2024 Dec 17;144(15) Epub 2024 Dec 16 doi: 10.4045/tidsskr.24.0412. PMID: 39692650
Long QT Syndrome Management during and after Pregnancy.
Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.
Gaba P, Bos JM, Shah MJ, Ackerman MJ
Heart Rhythm 2014 Dec;11(12):2310-3. doi: 10.1016/j.hrthm.2014.10.017. PMID: 25459999
The genetic basis of long QT and short QT syndromes: a mutation update.
Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M
Hum Mutat 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. PMID: 19862833
Jervell and Lange-Nielsen syndrome: a Norwegian perspective.
Tranebjaerg L, Bathen J, Tyson J, Bitner-Glindzicz M
Am J Med Genet 1999 Sep 24;89(3):137-46. PMID: 10704188

Diagnosis

The history of Jervell and Lange-Nielsen syndrome.
Hem E, Gjesdal KT, Tranebjærg L, Nylenna M
Tidsskr Nor Laegeforen 2024 Dec 17;144(15) Epub 2024 Dec 16 doi: 10.4045/tidsskr.24.0412. PMID: 39692650
Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.
Cepeda-Nieto AC, Zamora-Alemán CR, Cortes-Aguirre M, Valdés-Charles R, Rojas-Sánchez C, Salinas-Santander MA, Hu D, Barajas-Martinez H
Cardiol J 2021;28(5):786-789. Epub 2021 Jun 24 doi: 10.5603/CJ.a2021.0063. PMID: 34165182Free PMC Article
Genetics of long-QT syndrome.
Nakano Y, Shimizu W
J Hum Genet 2016 Jan;61(1):51-5. Epub 2015 Jun 25 doi: 10.1038/jhg.2015.74. PMID: 26108145
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.
Gaba P, Bos JM, Shah MJ, Ackerman MJ
Heart Rhythm 2014 Dec;11(12):2310-3. doi: 10.1016/j.hrthm.2014.10.017. PMID: 25459999
The Jervell and Lange-Nielsen syndrome.
Cusimano F, Martines E, Rizzo C
Int J Pediatr Otorhinolaryngol 1991 Jul;22(1):49-58. doi: 10.1016/0165-5876(91)90096-t. PMID: 1917338

Therapy

Long QT Syndrome Management during and after Pregnancy.
Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2.
Wu X, Zhang L, Li Y, Zhang W, Wang J, Cai C, Lin X
Nat Commun 2021 Jan 29;12(1):697. doi: 10.1038/s41467-020-20808-7. PMID: 33514733Free PMC Article
Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.
Eftekharian A, Mahani MH
Int J Pediatr Otorhinolaryngol 2015 Sep;79(9):1544-7. Epub 2015 Jul 14 doi: 10.1016/j.ijporl.2015.07.012. PMID: 26205899
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.
Gaba P, Bos JM, Shah MJ, Ackerman MJ
Heart Rhythm 2014 Dec;11(12):2310-3. doi: 10.1016/j.hrthm.2014.10.017. PMID: 25459999
Left thoracoscopic sympathectomy for cardiac denervation in patients with life-threatening ventricular arrhythmias.
Hofferberth SC, Cecchin F, Loberman D, Fynn-Thompson F
J Thorac Cardiovasc Surg 2014 Jan;147(1):404-9. Epub 2013 Oct 24 doi: 10.1016/j.jtcvs.2013.07.064. PMID: 24268954

Prognosis

KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC
Am J Med Genet A 2016 Jun;170(6):1510-9. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37636. PMID: 27041150
Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.
Gaba P, Bos JM, Shah MJ, Ackerman MJ
Heart Rhythm 2014 Dec;11(12):2310-3. doi: 10.1016/j.hrthm.2014.10.017. PMID: 25459999
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.
Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I
Circulation 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6 doi: 10.1161/CIRCULATIONAHA.105.592899. PMID: 16461811
Molecular genetics of long-QT syndrome.
Wattanasirichaigoon D, Beggs AH
Curr Opin Pediatr 1998 Dec;10(6):628-34. doi: 10.1097/00008480-199810060-00016. PMID: 9848024
The long QT syndrome.
Ackerman MJ
Pediatr Rev 1998 Jul;19(7):232-8. doi: 10.1542/pir.19-7-232. PMID: 9654946

Clinical prediction guides

The history of Jervell and Lange-Nielsen syndrome.
Hem E, Gjesdal KT, Tranebjærg L, Nylenna M
Tidsskr Nor Laegeforen 2024 Dec 17;144(15) Epub 2024 Dec 16 doi: 10.4045/tidsskr.24.0412. PMID: 39692650
Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.
Kekenes-Huskey PM, Burgess DE, Sun B, Bartos DC, Rozmus ER, Anderson CL, January CT, Eckhardt LL, Delisle BP
Int J Mol Sci 2022 Jul 2;23(13) doi: 10.3390/ijms23137389. PMID: 35806392Free PMC Article
Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.
Ergül Y, Tunca Şahin G, Kafalı HC, Öztürk E, Özgür S, Haydin S, Güzeltaş A
Anatol J Cardiol 2021 Apr;25(4):250-257. doi: 10.14744/AnatolJCardiol.2020.08791. PMID: 33830046Free PMC Article
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Vyas B, Puri RD, Namboodiri N, Nair M, Sharma D, Movva S, Saxena R, Bohora S, Aggarwal N, Vora A, Kumar J, Singh T, Verma IC
Am J Med Genet A 2016 Jun;170(6):1510-9. Epub 2016 Apr 4 doi: 10.1002/ajmg.a.37636. PMID: 27041150
The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.
Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I
Circulation 2006 Feb 14;113(6):783-90. Epub 2006 Feb 6 doi: 10.1161/CIRCULATIONAHA.105.592899. PMID: 16461811

Recent systematic reviews

Outcomes of Cochlear Implantation in Patients with Jervell and Lange-Nielsen Syndrome: A Systematic Review and Narrative Synthesis.
Metcalfe C, Muzaffar J, Monksfield P, Bance M
J Int Adv Otol 2020 Dec;16(3):456-462. doi: 10.5152/iao.2020.9025. PMID: 33136028Free PMC Article

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